C1838244[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 349

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212459	NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)	TTN, TTN-AS1 (E33342K +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 47718	NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)	TTN-AS1, TTN (V35756A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 47710	NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)	TTN, TTN-AS1 (I35540T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47709	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	TTN, TTN-AS1 (E35527V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47708	NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47704	NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47701	NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	LOC129935183, TTN +1 more (A35263S +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47700	NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)	LOC129935183, TTN +1 more (P35261L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47699	NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)	LOC129935183, TTN +1 more (E35257K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47694	NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign
Select item 47693	NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)	LOC129935184, TTN +1 more (V35177M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47689	NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 47684	NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)	LOC129935185, TTN +1 more (E35060D +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 47681	NM_001267550.2(TTN):c.104988C>T (p.Val34996=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +6 more	GBenign
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 47674	NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)	TTN, TTN-AS1 (V34854L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47663	NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)	TTN, TTN-AS1 (R34594H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 47655	NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)	TTN-AS1, TTN (G34278V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47652	NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)	TTN, TTN-AS1 (I34199V +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 47650	NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 47643	NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)	TTN, TTN-AS1 (R33964H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 47641	NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)	TTN, TTN-AS1 (Q33922H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 47639	NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)	TTN, TTN-AS1 (V33889I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 47633	NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	TTN, TTN-AS1 (R33738C +5 more)	Single nucleotide variant (missense variant)	TTN-related myopathy +10 more	GConflicting classifications of pathogenicity
Select item 47629	NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)	TTN-AS1, TTN (V33527I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47628	NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)	TTN, TTN-AS1 (P33487S +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 130687	NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg)	LOC126806420, TTN +1 more (W33439R +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 47626	NM_001267550.2(TTN):c.100172-17dup	LOC126806420, TTN +1 more	Duplication (intron variant)	Dilated Cardiomyopathy, Dominant +11 more	GConflicting classifications of pathogenicity
Select item 47625	NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)	LOC126806420, TTN +1 more (V33366I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47624	NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)	LOC126806420, TTN +1 more (R33365Q +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 47610	NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)	TTN, TTN-AS1 (R32971H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign
Select item 130686	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	TTN, TTN-AS1 (R32869P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tibial muscular dystrophy	GLikely pathogenic
Select item 47604	NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 47600	NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)	TTN, TTN-AS1 (N32797S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 47598	NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)	TTN, TTN-AS1 (A32765G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 47596	NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)	TTN, TTN-AS1 (R32748C +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47595	NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)	TTN, TTN-AS1 (I32722F +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 47594	NM_001267550.2(TTN):c.98098+9T>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +5 more	GBenign
Select item 47590	NM_001267550.2(TTN):c.97795+6G>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 47586	NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)	TTN, TTN-AS1 (R32538H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 130684	NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GBenign/Likely benign
Select item 47574	NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)	LOC126806421, TTN +1 more (T32315I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47566	NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)	LOC126806421, TTN +1 more (I32053T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign
Select item 47558	NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GBenign/Likely benign
Select item 212483	NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala)	TTN, TTN-AS1 (V29249A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 47555	NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)	TTN, TTN-AS1 (S31766F +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 47554	NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47552	NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)	TTN, TTN-AS1 (R31748C +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 47547	NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)	TTN, TTN-AS1 (S31683G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47544	NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47537	NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)	TTN-AS1, TTN (V31301I +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 47532	NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 47530	NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign
Select item 192143	NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)	TTN-AS1, TTN (S28434I +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 47529	NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47521	NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)	TTN, TTN-AS1 (I30731V +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 47519	NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)	TTN, TTN-AS1 (V30711M +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 47515	NM_001267550.2(TTN):c.91852+8T>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 47514	NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)	TTN, TTN-AS1 (A30589T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 47511	NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)	TTN, TTN-AS1 (I30525V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GBenign/Likely benign
Select item 47508	NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 47504	NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 47503	NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)	TTN-AS1, TTN (R30323K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47501	NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	TTN, TTN-AS1 (C30276G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GConflicting classifications of pathogenicity
Select item 130683	NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)	TTN, TTN-AS1 (I30213T +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GBenign/Likely benign
Select item 47497	NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)	TTN, TTN-AS1 (R30179H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47488	NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)	TTN, TTN-AS1 (I29773L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 191860	NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)	TTN, TTN-AS1 (E27204K +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 47484	NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 47477	NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)	TTN, TTN-AS1 (S29465F +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 47476	NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 47475	NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)	TTN, TTN-AS1 (I29396T +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 47470	NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)	TTN-AS1, TTN (R29293C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GBenign/Likely benign
Select item 47469	NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)	TTN, TTN-AS1 (V29270I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47467	NM_001267550.2(TTN):c.87669T>C (p.His29223=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 212482	NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)	TTN, TTN-AS1 (E26639del +5 more)	Microsatellite (inframe_deletion)	not provided +8 more	GUncertain significance
Select item 47460	NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 47457	NM_001267550.2(TTN):c.86811A>G (p.Val28937=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 196076	NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 47442	NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)	TTN, TTN-AS1 (R28326Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 47436	NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GBenign/Likely benign
Select item 47433	NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)	TTN, TTN-AS1 (R28118C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 47429	NM_001267550.2(TTN):c.83673T>C (p.Gly27891=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +7 more	GBenign
Select item 47425	NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)	TTN, TTN-AS1 (I27775V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47419	NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)	TTN, TTN-AS1 (V27686I +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47418	NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)	TTN, TTN-AS1 (A27600T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47417	NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47414	NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)	TTN, TTN-AS1 (N27520K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 47413	NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 47410	NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)	TTN-AS1, TTN (T27462K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GBenign/Likely benign
Select item 47405	NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)	TTN, TTN-AS1 (A27320T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47402	NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 47392	NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 165813	NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)	TTN, TTN-AS1 (I24333V +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +10 more	GConflicting classifications of pathogenicity
Select item 130682	NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 47382	NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)	TTN, TTN-AS1 (T26621M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 47380	NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)	TTN, TTN-AS1 (D26595H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47375	NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)	TTN, TTN-AS1 (R26440H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 47373	NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)	TTN, TTN-AS1 (I26422T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign

<< First< Prev

Page of 4